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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
DisGeNET	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **126 - 150** of **7942** in total

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Disease ID	Disease Name ▲	Gene Symbol	Gene ID	Organism
DOID:12506	Bell's palsy Aliases: Bell palsy Bell's (facial) palsy	ACADS ACSL4 AGRN ALG13 ALG14 ALG2 ASAH1 CHKB DPAGT1 FKRP GFPT1 GMPPB GNE HPGDS IL1RAPL1 LARGE1 MTM1 MTMR14 MTMR2 POMT1 POMT2 PTDSS1 SMUG1	10020 10585 11141 1120 1798 199857 2182 23583 2673 27306 29925 29954 35 375790 427 4534 64419 79147 79868 85365 8898 9215 9791	Homo sapiens (human)
DOID:2217	Bernard-Soulier syndrome Aliases: Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia Thrombopathy, Bernard-Soulier	LGALS8 PRNP XYLT1	3964 5621 64131	Homo sapiens (human)
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	COL6A1 DAG1 FKRP HSPG2	1291 1605 3339 79147	Homo sapiens (human)
DOID:0050663	Bethlem myopathy Aliases: benign congenital muscular dystrophy	Col6a1	12833	Mus musculus (house mouse)
DOID:0050664	Bietti crystalline corneoretinal dystrophy Aliases: Bietti's crystalline dystrophy	CYP2B6 SCD	1555 6319	Homo sapiens (human)
DOID:0050678	Blau syndrome Aliases: ARTHROCUTANEOUVEAL GRANULOMATOSIS BLAUS Jabs syndrome	ATP6AP2	10159	Homo sapiens (human)
DOID:12305	Bloch-Sulzberger syndrome Aliases: Incontinentia pigmenti Incontinentia pigmenti syndrome	ACACA CD38 CEL CHIT1 CLEC7A COLEC11 CYP1B1 CYP51A1 G6PD IL1R1 MASP1 MPG NSDHL PARP9 SFTPD SLC27A5 SMUG1	1056 10998 1118 1545 1595 23583 2539 31 3554 4350 50814 5648 6441 64581 78989 83666 952	Homo sapiens (human)
DOID:2717	Bloom syndrome Aliases: Bloom-Torre-Machacek syndrome Congenital Telangiectatic Erythema syndrome	ALPP APRT ATRNL1 CAT HPSE2 LCAT PKM PLAUR SCD UNG	250 26033 353 3931 5315 5329 60495 6319 7374 847	Homo sapiens (human)
DOID:0050681	Borjeson-Forssman-Lehmann syndrome Aliases: BFLS BORJ Borjeson syndrome MRXSBFL intellectual deficiency-epilepsy-endocrine disorders syndrome mental retardation, epilepsy, and endocrine disorder syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type	HPRT1	3251	Homo sapiens (human)
DOID:0111265	Boucher-Neuhauser syndrome Aliases: ataxia-hypogonadism-choroidal dystrophy syndrome	PNPLA6	10908	Homo sapiens (human)
DOID:11254	Brill-Zinsser disease Aliases: Brill Zinsser disease Brill's disease Recrudescent typhus	CS	1431	Homo sapiens (human)
DOID:0050693	Brooke-Spiegler syndrome Aliases: BRSS BSS CYLD cutaneous syndrome SBS Spiegler-Brooke Syndrome	PNPLA6 XYLT1	10908 64131	Homo sapiens (human)
DOID:14456	Brucella melitensis brucellosis	APRT CD14 MICA OXSM	100507436 353 54995 929	Homo sapiens (human)
DOID:0060231	Bruck syndrome Aliases: osteogenesis imperfecta with congenital joint contractures	Plod	39265	Drosophila melanogaster (fruit fly)
DOID:0110218	Brugada syndrome 1 Aliases: BRGDA1	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l	394623	Xenopus tropicalis (tropical clawed frog)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l	449663	Danio rerio (zebrafish)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpd1l.L	379962	Xenopus laevis (African clawed frog)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	GPD1 GPD2	851539 854095	Saccharomyces cerevisiae S288C
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	gpdh-2	176399	Caenorhabditis elegans
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	Gpd1l	333433	Mus musculus (house mouse)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	Gpdh1	33824	Drosophila melanogaster (fruit fly)
DOID:0110219	Brugada syndrome 2 Aliases: BRGDA2	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110220	Brugada syndrome 3 Aliases: BRGDA3	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)
DOID:0110221	Brugada syndrome 4 Aliases: BRGDA4	APRT CACNA2D1 GPD1L IDS SCD	23171 3423 353 6319 781	Homo sapiens (human)

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